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1. Clinical utility gene card for: Meckel syndrome.

Author

Salonen, R, Kestilä, M, and Bergmann, C

Subjects
*GENETIC disorders, *NONSENSE mutation, *GENETIC regulation, *GENETIC genealogy, *MEDICAL genetics
Abstract

The article offers information on the clinical utility gene card for the genetic disorder Meckel-Gruber syndrome (MKS). It mentions three different mutations described in MKS patients such as splicing, missense, and nonsense mutations. Furthermore, the analytical methods for MKS involve the assessment of multiplex and consanguineous pedigrees through initial linkage analysis of loci.

Published
2011
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